Pediatric neurology最新文献

{"title":"Comparative Analysis of Lennox-Gastaut Syndrome With Different Subtypes of Tonic Seizures: A Single-Center Retrospective Cohort Study","authors":"Shiyu Wang MD ,&nbsp;Xuan Zhao MB ,&nbsp;Ting Li MB ,&nbsp;Yu Jia MD ,&nbsp;Liping Zhang MD ,&nbsp;Xiaohong Qi MD ,&nbsp;Yicong Lin MD ,&nbsp;Yuping Wang MD, PhD","doi":"10.1016/j.pediatrneurol.2024.07.018","DOIUrl":"10.1016/j.pediatrneurol.2024.07.018","url":null,"abstract":"<div><h3>Background</h3><div>Lennox-Gastaut syndrome (LGS) is one of the most severe childhood-onset epileptic encephalopathies, primarily characterized by tonic seizures. In clinical practice, we have identified various subtypes of tonic seizures in LGS. This study aimed to analyze the clinical characteristics, electrographic features, treatment responses, and prognosis across different subtypes of LGS.</div></div><div><h3>Methods</h3><div>This retrospective cohort study included 46 patients diagnosed with LGS at our center between January 2017 and January 2020. Patients were classified into four groups based on tonic seizure subtypes: Group A (tonic), Group B (spasm-tonic), Group C (myoclonic-tonic), and Group D (combination of spasm-tonic and myoclonic-tonic). Comprehensive clinical data were collected and analyzed.</div></div><div><h3>Results</h3><div>Of the 46 patients, 33 were male. The mean age of onset for Group B (12.38 ± 7.85 months) was significantly less than those of the other three groups (<em>P</em> = 0.02). No significant differences in etiology were found among the groups. Genetic analysis identified mutations in <em>SCN8A</em>, <em>MCCC2</em>, <em>STXBP1</em>, <em>GABRB3</em>, and <em>CACNA1H</em>. After a minimum follow-up of 24 months, the treatment outcomes were more favorable in Groups A and C, whereas psychomotor development was notably poorer in Groups B and D.</div></div><div><h3>Conclusions</h3><div>The findings of this study suggest that LGS may present with distinct subtypes of tonic seizures, with spasm-tonic seizures presenting at an earlier age. Patients with LGS experiencing spasm-tonic seizures, with or without myoclonic-tonic seizures, exhibited poorer treatment responses and psychomotor development than those with other subtypes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 132-138"},"PeriodicalIF":3.2,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet","authors":"Jeong-A Kim MD ,&nbsp;Stephanie Schimpf RD ,&nbsp;Sho T. Yano MD, PhD ,&nbsp;Douglas Nordli Jr MD ,&nbsp;Chalongchai Phitsanuwong MD","doi":"10.1016/j.pediatrneurol.2024.07.014","DOIUrl":"10.1016/j.pediatrneurol.2024.07.014","url":null,"abstract":"<div><h3>Background</h3><p>The ketogenic diet (KD) is an effective treatment for epilepsy. In recent years, studies have shown favorable efficacy of KD in epilepsy from genetic disorders. In this study, we propose an approach to KD in monogenic epilepsy: we evaluate the utility of categorizing genetic variants based on rational associations with the known mechanisms of KD.</p></div><div><h3>Methods</h3><p>Patients with monogenic epilepsy treated with KD were reviewed. The genetic etiologies were categorized into five groups: (1) conditions causing cellular energy impairment, (2) GABA-pathies, (3) mToR-pathies, (4) ion channelopathies, and (5) no known mechanisms associated with KD mechanisms. Treatment response was defined as a median reduction in seizure frequency of greater than 50%.</p></div><div><h3>Results</h3><p>Of 35 patients, 24 (69%) were responders at three months. Based on categories, Group 1 had the highest response rate with seven of seven (100%), followed by Group 2, six of seven (86%), and Group 3, two of three (67%). Patients in Groups 4 and 5 had poorer responses with three of seven (43%) and four of 11 (36%) response rates, respectively (<em>P</em> &lt; 0.01). Median percentage of seizure reduction showed Group 1 with the highest reduction of 97.5%, Group 2 at 94%, and Groups 3, 4, and 5 at 62.5%, 30%, and 40%, respectively (<em>P</em> = 0.036).</p></div><div><h3>Conclusion</h3><p>Our findings show a favorable response to KD in patients with monogenic epilepsy (69% at three months) with the highest response in patients with conditions involving cellular energy impairment and GABA-pathies. The KD, therefore, should be considered early in patients with monogenic epilepsy, especially those involving genes associated with cellular energy impairment or GABA-pathies.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 11-17"},"PeriodicalIF":3.2,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinician Stakeholder Experience With Telemedicine Consults to Assess Neonatal Encephalopathy in a Rural State","authors":"Leah Marie Seften BS ,&nbsp;Elizabeth Scharnetzki PhD ,&nbsp;Clairette Kirezi BS ,&nbsp;Alexa Craig MD, MSc, MS","doi":"10.1016/j.pediatrneurol.2024.07.013","DOIUrl":"10.1016/j.pediatrneurol.2024.07.013","url":null,"abstract":"<div><h3>Background</h3><p>Serial neonatal encephalopathy (NE) examinations are difficult to perform in rural community hospitals as on-site experts are not readily available. We implemented a synchronous, acute care model of teleconsultation—the Maine Neonatal Encephalopathy Teleconsultation program (Maine NET)—to provide remote, joint assessment of NE by pediatric neurology and neonatology at nine community hospitals and one tertiary care center. We performed a qualitative study to interview clinicians about their experience of this program.</p></div><div><h3>Methods</h3><p>From April 2018 to October 2022, we employed a semistructured interview format with 16 clinicians representing all participating hospitals. We utilized deductive analysis to assign a set of predefined codes to the transcribed interviews.</p></div><div><h3>Results</h3><p>Thematic analysis supported the anticipated benefits of Maine NET, demonstrating that clinicians felt resource utilization, collaborative decision making, communication, and continuity of care were improved. Clinicians overwhelmingly supported the program: “This program has truly saved babies' lives and future function. I have not met any parents through this journey, who aren't incredibly grateful for the care that is provided” and emphasized the benefit of collaboration between all care team members. Teleconsultation was felt to be “more than adequate to [assess] NE.” Connectivity issues were cited as a limitation.</p></div><div><h3>Conclusions</h3><p>Maine NET has positively impacted care delivery for newborns with clinical concerns for NE. Additionally, the program has improved resource allocation, collaborative decision making, communication, and equity of care. Addressing technological challenges will be vital to the success and sustainability of the planned Maine NET expansion.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 1-7"},"PeriodicalIF":3.2,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes","authors":"Sandy Siegert MD ,&nbsp;Anna Grisold MD, PhD ,&nbsp;Katharina Pal-Handl PhD ,&nbsp;Stephanie Lilja PhD ,&nbsp;Sylvia Kepa MD, PhD ,&nbsp;Sara Silvaieh MD ,&nbsp;Franco Laccone MD ,&nbsp;Gerald Wiest MD ,&nbsp;Ivana Pogledic MD, PhD ,&nbsp;Maria T. Schmook MD ,&nbsp;Eugen Boltshauser MD ,&nbsp;Wolfgang M. Schmidt PhD ,&nbsp;Martin Krenn MD, PhD","doi":"10.1016/j.pediatrneurol.2024.07.015","DOIUrl":"10.1016/j.pediatrneurol.2024.07.015","url":null,"abstract":"<div><h3>Background</h3><p>Biallelic <em>SUFU</em> variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum related to <em>SUFU</em> haploinsufficiency.</p></div><div><h3>Methods</h3><p>Nine individuals (from three unrelated families) harboring truncating <em>SUFU</em> variants were investigated, including two previously reported individuals (from one family). We provide results from a comprehensive assessment comprising neuroimaging, neuropsychology, video-oculography, and genetic testing.</p></div><div><h3>Results</h3><p>We identified three inherited or <em>de novo</em> truncating variants in <em>SUFU</em> (NM_016169.4): c.895C&gt;T p.(Arg299∗), c.71dup p.(Ala25Glyfs∗23), and c.71del p.(Pro24Argfs∗72). The phenotypic expression showed high variability both between and within families. Clinical features include motor developmental delay (seven of nine), axial hypotonia (five of nine), ocular motor apraxia (three of nine), and cerebellar signs (three of nine). Four of the six reported children had macrocephaly. Neuropsychological and developmental assessments revealed mildly delayed language development in the youngest children, whereas general cognition was normal in all variant carriers. Subtle but characteristic <em>SUFU</em>-related neuroimaging abnormalities (including superior cerebellar dysplasia, abnormalities of the superior cerebellar peduncles, rostrally displaced fastigium, and vermis hypoplasia) were observed in seven of nine individuals.</p></div><div><h3>Conclusions</h3><p>Our data shed further light on the mild but recognizable features of <em>SUFU</em> haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared with Joubert syndrome and seem to be well compensated over time.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 38-44"},"PeriodicalIF":3.2,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002790/pdfft?md5=76ceb9fd27326b717fad6aee95d40970&pid=1-s2.0-S0887899424002790-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142047775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Equitable Access of Delandistrogene Moxeparvovec for Patients With Duchenne Muscular Dystrophy: A Call for Discussion","authors":"Omer Abdul Hamid MD ,&nbsp;D. Micah Hester PhD ,&nbsp;Susan E. Matesanz MD ,&nbsp;Sarah Wright DO ,&nbsp;Kaitlin Y. Batley MD ,&nbsp;Crystal M. Proud MD ,&nbsp;Aravindhan Veerapandiyan MD","doi":"10.1016/j.pediatrneurol.2024.07.017","DOIUrl":"10.1016/j.pediatrneurol.2024.07.017","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"159 ","pages":"Pages 33-34"},"PeriodicalIF":3.2,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Neurodevelopmental Outcome of Children With Mild Traumatic Brain Injury","authors":"Cece C. Kooper MSc ,&nbsp;Marlies A. van Houten MD, PhD ,&nbsp;Nicky Niele MD, PhD ,&nbsp;Cornelieke Aarnoudse-Moens PhD ,&nbsp;Mara van Roermund ,&nbsp;Jaap Oosterlaan PhD ,&nbsp;Frans B. Plötz MD, PhD ,&nbsp;Marsh Königs PhD","doi":"10.1016/j.pediatrneurol.2024.07.011","DOIUrl":"10.1016/j.pediatrneurol.2024.07.011","url":null,"abstract":"<div><h3>Background</h3><p>To investigate the long-term outcome of pediatric mild traumatic brain injury (mTBI) in terms of neurocognitive, behavioral, and school functioning and to identify clinical risk factors for adverse outcomes.</p></div><div><h3>Methods</h3><p>This study describes the follow-up of a prospective multicenter sample of 89 children with mTBI 3.6 years postinjury and 89 neurologically healthy children matched for sex, age, and socioeconomic status. Neurodevelopmental outcomes were assessed using an intelligence test, behavioral questionnaires, computerized neurocognitive tests, and longitudinal (pre- and postinjury) standardized school performance data.</p></div><div><h3>Results</h3><p>Children with mTBI exhibited intelligence in the average range but had more behavioral problems related to inattentiveness (<em>P</em> = 0.004, <em>d</em> = 0.47) and hyperactive impulsivity (<em>P</em> = 0.01, <em>d</em> = 0.40) and showed poorer neurocognitive performance in information processing stability (<em>P</em> = 0.003, <em>d</em> = −0.55) and Visual Working Memory (<em>P</em> = 0.04, <em>d</em> = −0.39) compared with matched peers. Longitudinal school performance data revealed poorer performance in Technical Reading up to two years postinjury (<em>P</em> = 0.005, <em>d</em> = −0.42) when compared with normative data. Clinical risk factors did not reveal predictive value for adverse outcomes in children with mTBI.</p></div><div><h3>Conclusions</h3><p>This study indicates that children with mTBI are at risk of long-term deficits in neurocognitive and behavioral functioning, with longitudinal evidence suggesting shortfalls in school performance up to two years postinjury. Clinical risk factors do not provide a solid basis for long-term neurodevelopmental prognosis. Findings emphasize the importance of, and challenges for, early identification of children at risk for adverse neurodevelopmental outcome after mTBI.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 18-25"},"PeriodicalIF":3.2,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002625/pdfft?md5=ce84bad74163f7b90e406ea38c96fef3&pid=1-s2.0-S0887899424002625-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Response to Late-Stage Cyclophosphamide in a Child With Refractory N-Methyl-d-Aspartate Receptor Encephalitis","authors":"Mehreen Shahid DO ,&nbsp;Darina Dinov DO ,&nbsp;J. Nicholas Brenton MD","doi":"10.1016/j.pediatrneurol.2024.07.012","DOIUrl":"10.1016/j.pediatrneurol.2024.07.012","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 8-10"},"PeriodicalIF":3.2,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder","authors":"Maria Carla Borroto ,&nbsp;Heena Patel PharmD ,&nbsp;Siddharth Srivastava MD ,&nbsp;Lindsay C. Swanson MS ,&nbsp;Boris Keren MD, PhD ,&nbsp;Sandra Whalen MD ,&nbsp;Cyril Mignot MD, PhD ,&nbsp;Xiaodong Wang PhD ,&nbsp;Qian Chen MSc, PhD ,&nbsp;Jill A. Rosenfeld MS ,&nbsp;Scott McLean MD ,&nbsp;Rebecca O. Littlejohn MS","doi":"10.1016/j.pediatrneurol.2024.07.010","DOIUrl":"10.1016/j.pediatrneurol.2024.07.010","url":null,"abstract":"<div><h3>Background</h3><p>GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between <em>RAB11A</em> variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of <em>RAB11A</em>-associated neurodevelopmental disorder and explore genotype-phenotype correlations.</p></div><div><h3>Methods</h3><p>We assessed 16 patients with pathogenic or likely pathogenic <em>RAB11A</em> variants, generally <em>de novo</em>, heterozygous missense variants. One individual had a homozygous nonsense variant, although concomitant with a pathogenic <em>LAMA2</em> variant, which made their respective contributions to the phenotype difficult to discriminate.</p></div><div><h3>Results</h3><p>We reinforce the finding that certain <em>RAB11A</em> missense variants lead to intellectual disability and developmental delays. Other clinical features might include gait disturbances, hypotonia, magnetic resonance imaging abnormalities, visual anomalies, dysmorphisms, early adrenarche, and obesity. Epilepsy seems to be less common and linked to variants outside the binding sites. Individuals with variants in the binding sites seem to have a more multisystemic, nonepileptic phenotype.</p></div><div><h3>Conclusions</h3><p>Similar to other Rab-related disorders, <em>RAB11A</em>-associated neurodevelopmental disorder can also impact gait, tonus, brain anatomy and physiology, vision, adrenarche, and body weight and structure. Epilepsy seems to affect the minority of patients with variants outside the binding sites.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 45-53"},"PeriodicalIF":3.2,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002613/pdfft?md5=12ef8cd00d03d472149d57d6339d53d7&pid=1-s2.0-S0887899424002613-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141848373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis","authors":"Grace Gombolay MD, MSc ,&nbsp;J. Nicholas Brenton MD ,&nbsp;Jennifer H. Yang MD ,&nbsp;Coral M. Stredny MD ,&nbsp;Ryan Kammeyer MD ,&nbsp;Kristen S. Fisher MD ,&nbsp;Alexander J. Sandweiss MD, PhD ,&nbsp;Timothy A. Erickson MD ,&nbsp;Varun Kannan MD ,&nbsp;Catherine Otten MD ,&nbsp;Claude Steriade MD ,&nbsp;NgocHanh Vu MD ,&nbsp;Jonathan D. Santoro MD ,&nbsp;Karla Robles-Lopez MD ,&nbsp;Robert Goodrich MD ,&nbsp;Scott Otallah MD ,&nbsp;Janetta Arellano MD ,&nbsp;Andrew Christiana MD ,&nbsp;Morgan Morris MS ,&nbsp;Mark P. Gorman MD ,&nbsp;Duriel Hardy MD","doi":"10.1016/j.pediatrneurol.2024.07.009","DOIUrl":"10.1016/j.pediatrneurol.2024.07.009","url":null,"abstract":"<div><h3>Background</h3><p>Isolated psychiatric symptoms can be the initial symptom of pediatric anti-<em>N</em>-methyl-d-aspartate (NMDA) receptor autoimmune encephalitis (pNMDARE). Here we report on the prevalence of isolated psychiatric symptoms in pNMDARE. We also assess whether initial neurodiagnostic tests (brain magnetic resonance imaging [MRI], electroencephalography [EEG], and/or cerebrospinal fluid [CSF] white blood cell count) are abnormal in children with isolated psychiatric symptoms and pNMDARE.</p></div><div><h3>Methods</h3><p>This multicenter retrospective cohort study from CONNECT (Conquering Neuroinflammation and Epilepsies Consortium) from 14 institutions included children under age 18 years who were diagnosed with pNMDARE. Descriptive statistics using means, medians, and comparisons for continuous versus discrete data was performed.</p></div><div><h3>Results</h3><p>Of 249 children included, 12 (5%) had only psychiatric symptoms without other typical clinical features of autoimmune encephalitis at presentation. All but one (11 of 12 = 92%) had at least one abnormal finding on initial ancillary testing: eight of 12 (67%) had an abnormal EEG, six of 12 (50%) had an abnormal MRI, and five of 12 (42%) demonstrated CSF pleocytosis. The single patient with a normal MRI, EEG, and CSF profile had low positive CSF NMDA antibody (titer of 1:1), and symptoms improved without immunotherapy.</p></div><div><h3>Conclusions</h3><p>Isolated first-episode psychiatric symptoms in pNMDARE are uncommon, and the majority of children will exhibit additional neurodiagnostic abnormalities. Delaying immunotherapy in a child with isolated psychiatric symptoms and normal neurodiagnostic testing may be warranted while awaiting confirmatory antibody testing.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"159 ","pages":"Pages 12-15"},"PeriodicalIF":3.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141843740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence of Hearing Loss in Patients With Neurofibromatosis Type 1 at a Tertiary Care Pediatric Hospital","authors":"Alice Yun BS ,&nbsp;Amanda M. Griffin AuD, PhD ,&nbsp;Hae-Young Kim DrPH ,&nbsp;Nicole J. Ullrich MD, PhD ,&nbsp;Greg R. Licameli MD, MHCM","doi":"10.1016/j.pediatrneurol.2024.07.008","DOIUrl":"10.1016/j.pediatrneurol.2024.07.008","url":null,"abstract":"<div><h3>Background</h3><p>Hearing loss has not been thoroughly investigated as a comorbidity in larger cohorts with neurofibromatosis type 1 (NF1).</p></div><div><h3>Methods</h3><p>Available audiometric data were reviewed from patients with NF1 seen at a tertiary pediatric hospital to assess prevalence and risk factors for hearing loss.</p></div><div><h3>Results</h3><p>Of 1172 patients with NF1 seen between 2010 and 2022, 90 had available audiometric data and 48 of 90 patients (53%) had one or more audiogram revealing hearing loss. Those not referred to audiology were presumed to have normal hearing, resulting in a conservative hearing loss estimate of 4% for children and young adults with NF1. Of 90 patients with audiograms, 29 (32%) had conductive loss (CHL), 15 (17%) had sensorineural loss (SNHL), and 3 (3%) had mixed hearing loss. Hearing loss type was undetermined for one patient. For children with CHL, six had permanent CHL secondary to plexiform neurofibroma, 19 CHL were transient due to active middle ear dysfunction, and four CHL cases were indeterminate in etiology. For three children with SNHL or mixed hearing loss, etiology included history of ototoxic chemotherapy and/or family history of SNHL. In the 16 patients with SNHL or mixed hearing loss with more than one audiogram over time, progressive hearing decline was noted in eight of 16, and 26 of 178 hearing thresholds (15%) progressed.</p></div><div><h3>Conclusions</h3><p>Our findings suggest that audiometric evaluations should be considered for at least a subset of children with NF1, given the higher-than-expected rate of hearing loss in patients with NF1 compared with the general population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"159 ","pages":"Pages 35-40"},"PeriodicalIF":3.2,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002595/pdfft?md5=277a79c825d41c1def31f5b3c596627e&pid=1-s2.0-S0887899424002595-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}